Human Mannosidase, beta A, Lysosomal (MANBA) Interaktionspartner

The MANBA genotypes for a polymorphic CA repeat were related to colorectal cancer risk in a Swedish population but not a Chinese one. In the Swedish population, individuals with < 22 CAs (zeige CSE1L Antikörper)/< 22 CAs (zeige CSE1L Antikörper) had a significantly increased risk for CRC (zeige CALR Antikörper).

The present analysis of the c.1922G>A MANBA mutation underlines the lack of genotype-phenotype correlation in beta-mannosidosis

Mannosidase, beta A, Lysosomal (MANBA) Antigen-Profil

Protein Überblick

This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement.